Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000656097 | SCV000598596 | uncertain significance | X-linked complicated corpus callosum dysgenesis | 2017-09-01 | criteria provided, single submitter | research | this variant was indentified in an individual with malformations of cortical development |
Labcorp Genetics |
RCV002524421 | SCV003025363 | benign | Spastic paraplegia | 2023-09-08 | criteria provided, single submitter | clinical testing |